Works by Khan, Muzammil


Results: 114
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    Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms.

    Published in:
    Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1168307
    By:
    • Muhammad, Nazif;
    • Hussain, Syeda Iqra;
    • Rehman, Zia Ur;
    • Khan, Sher Alam;
    • Jan, Samin;
    • Khan, Niamatullah;
    • Muzammal, Muhammad;
    • Abbasi, Sumra Wajid;
    • Kakar, Naseebullah;
    • Khan, Muzammil Ahmad;
    • Mirza, Muhammad Usman;
    • Muhammad, Noor;
    • Khan, Saadullah;
    • Wasif, Naveed
    Publication type:
    Article
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    Initiation or switch to insulin degludec/insulin aspart in adults with type 2 diabetes in India: Results from a prospective, non-interventional, real-world study.

    Published in:
    Journal of Family Medicine & Primary Care, 2024, v. 13, n. 9, p. 3590, doi. 10.4103/jfmpc.jfmpc_1401_23
    By:
    • Baruah, Manash P.;
    • Aneja, Pankaj;
    • Pitale, Shailesh;
    • Bhograj, Abhijit;
    • Agrawala, Ritesh K.;
    • Aggarwal, Ajay;
    • Mahadev, Prasad G.;
    • Madhavdas, Deepaklal C.;
    • Shah, Sanjay;
    • John, Mathew;
    • Pathan, Muzammil Khan. A.;
    • Revanna, Manjunatha;
    • Chandrappa, Manu;
    • Singh, Kiran P.
    Publication type:
    Article
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    A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 22, p. 5940, doi. 10.1093/hmg/ddu318
    By:
    • Khan, Muzammil A.;
    • Rupp, Verena M.;
    • Orpinell, Meritxell;
    • Hussain, Muhammad S.;
    • Altmüller, Janine;
    • Steinmetz, Michel O.;
    • Enzinger, Christian;
    • Thiele, Holger;
    • Höhne, Wolfgang;
    • Nürnberg, Gudrun;
    • Baig, Shahid M.;
    • Ansar, Muhammad;
    • Nürnberg, Peter;
    • Vincent, John B.;
    • Speicher, Michael R.;
    • Gönczy, Pierre;
    • Windpassinger, Christian
    Publication type:
    Article
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    Analysis of a non‐lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons.

    Published in:
    Clinical Genetics, 2023, v. 104, n. 4, p. 491, doi. 10.1111/cge.14381
    By:
    • Kaufmann, Lukas;
    • Pilic, Johannes;
    • Auinger, Lisa;
    • Mayer, Anna‐Lena;
    • Blatterer, Jasmin;
    • Semmler‐Bruckner, Johann;
    • Abbas, Safdar;
    • Rehman, Khurram;
    • Ayaz, Muhammad;
    • Graier, Wolfgang F.;
    • Malli, Roland;
    • Petek, Erwin;
    • Wagner, Klaus;
    • Al Kaissi, Ali;
    • Khan, Muzammil Ahmad;
    • Windpassinger, Christian
    Publication type:
    Article
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    The molecular genetics of UV-Sensitive syndrome: A rare dermal anomaly.

    Published in:
    Journal of the Pakistan Medical Association, 2021, v. 71, n. 10, p. 2391, doi. 10.47391/JPMA.03-476
    By:
    • Muzammal, Muhammad;
    • Ali, Muhammad Zeeshan;
    • Ahmad, Safeer;
    • Huma, Shawana;
    • Rizwan;
    • Ahmad, Sohail;
    • Abbasi, Ansar Ahmad;
    • Khan, Saadullah;
    • Khan, Muzammil Ahmad
    Publication type:
    Article
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